12-52447245-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005555.4(KRT6B):āc.1640C>Gā(p.Ser547Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005555.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251394Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135878
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461728Hom.: 0 Cov.: 30 AF XY: 0.0000481 AC XY: 35AN XY: 727170
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152144Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1640C>G (p.S547C) alteration is located in exon 9 (coding exon 9) of the KRT6B gene. This alteration results from a C to G substitution at nucleotide position 1640, causing the serine (S) at amino acid position 547 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at